Parkinsonism, premature menopause, and mitochondrial DNA polymerase γ mutations: Clinical and molecular genetic study

Lancet

Volumn 364, Issue 9437, 2004, Pages 875-882

  Luoma, Petri ^a   Melberg, Atle ^b   Rinne, Juha O ^c   Kaukonen, Jyrki A ^a   Nupponen, Nina N ^a   Chalmers, Richard M ^d   Oldfors, Prof Anders ^e   Rautakorpi, Ilkka ^f   Peltonen, Prof Leena ^a   Majamaa, Prof Kari ^g   Somer, Hannu ^a   Suomalainen, Anu ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^c UNIVERSITY OF TURKU   (Finland)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^f LAPLAND CENTRAL HOSPITAL   (Finland)

^g UNIVERSITY OF OULU   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; LEVODOPA; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; DNA DIRECTED DNA POLYMERASE; POLG PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; ATTENTION; AUTOPSY; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; AWARENESS; BIOACCUMULATION; CELL LOSS; CLINICAL ARTICLE; CLINICAL GENETICS; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA SYNTHESIS; DOPAMINERGIC NERVE CELL; EARLY MENOPAUSE; ETHNOLOGY; EXTERNAL OPHTHALMOPLEGIA; FAMILY; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC DISORDER; GENETIC TRAIT; HUMAN; HUMAN TISSUE; LEWY BODY; MALE; MOLECULAR GENETICS; MOTOR DYSFUNCTION; MUSCLE WEAKNESS; NEUROPATHY; NUCLEOTIDE SEQUENCE; PARKINSON DISEASE; PARKINSONISM; PATHOGENESIS; PHAGOCYTOSIS; PIGMENTATION; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; RECORDING; RELATIVE; SUBSTANTIA NIGRA; SYMPTOM; BRAIN; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; COMPUTER ASSISTED EMISSION TOMOGRAPHY; DNA SEQUENCE; GENETICS; MIDDLE AGED; MUTATION; ONSET AGE; PATHOLOGY; PEDIGREE; SCINTISCANNING;

ADULT; AGE OF ONSET; BRAIN; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; FEMALE; HUMANS; MALE; MENOPAUSE, PREMATURE; MIDDLE AGED; MUTATION; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PARKINSONIAN DISORDERS; PEDIGREE; SEQUENCE ANALYSIS, DNA; TOMOGRAPHY, EMISSION-COMPUTED;

EID: 4544273256     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(04)16983-3     Document Type: Article

References (40)

1. de Rijk MC, Launer LJ, Berger K, et al. Prevalence of Parkinson's disease in Europe: a collaborative study of population-based cohorts. Neurology. 54:2000;S21-S23
2. Guttman M, Slaughter PM, Theriault ME, DeBoer DP, Naylor CD. Burden of parkinsonism: a population-based study. Mov Disord. 18:2003;313-319
3. Lestienne P, Nelson J, Riederer P, Jellinger K, Reichmann H. Normal mitochondrial genome in brain from patients with Parkinson's disease and complex I defect. J Neurochem. 55:1990;1810-1812
4. Ozawa T, Tanaka M, Ikebe S, Ohno K, Kondo T, Mizuno Y. Quantitative determination of deleted mitochondrial DNA relative to normal DNA in parkinsonian striatum by a kinetic PCR analysis. Biochem Biophys Res Commun. 172:1990;483-489
5. Orth M, Schapira AH. Mitochondria and degenerative disorders. Am J Med Genet. 106:2001;27-36
6. Suomalainen A, Kaukonen J. Diseases caused by nuclear genes affecting mtDNA stability. Am J Med Genet. 106:2001;53-61
7. Chalmers RM, Brockington M, Howard RS, Lecky BR, Morgan-Hughes JA, Harding AE. Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features. J Neurol Sci. 143:1996;41-45
8. Moslemi AR, Melberg A, Holme E, Oldfors A. Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions. Neurology. 53:1999;79-84
9. Checcarelli N, Prelle A, Moggio M, et al. Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy. J Neurol Sci. 123:1994;74-79
10. Siciliano G, Mancuso M, Ceravolo R, Lombardi V, Iudice A, Bonuccelli U. Mitochondrial DNA rearrangements in young onset parkinsonism: two case reports. J Neurol Neurosurg Psychiatry. 71:2001;685-687
11. Casali C, Bonifati V, Santorelli FM, et al. Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family. Neurology. 56:2001;802-805
12. Kaukonen J, Juselius JK, Tiranti V, et al. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science. 289:2000;782-785
13. Spelbrink JN, Li FY, Tiranti V, et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet. 28:2001;223-231
14. Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet. 28:2001;211-212
15. Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature. 339:1989;309-311
16. Suomalainen A, Majander A, Haltia M, et al. Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest. 90:1992;61-66
17. Lundberg PO. Ocular myopathy with hypogonadism. Acta Neurol Scand. 38:1962;142-155
18. Melberg A, Arnell H, Dahl N, et al. Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism. Muscle Nerve. 19:1996;1561-1569
19. Stanford Genome Technology Center. DHPLC Melt Program. http://insertion.stanford.edu/melt.html (accessed April 21, 2004).
20. Suomalainen A, Syvänen AC. Quantitative analysis of human DNA sequences by PCR and solid-phase minisequencing. Mol Biotechnol. 15:2000;123-131
21. Rinne JO, Bergman J, Ruottinen H, et al. Striatal uptake of a novel PET ligand, [18F] beta-CFT, is reduced in early Parkinson's disease. Synapse. 31:1999;119-124
22. Lamantea E, Tiranti V, Bordoni A, et al. Mutations of mitochondrial DNA polymerase gamma A are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. Ann Neurol. 52:2002;211-219
23. Van Goethem G, Lofgren A, Dermaut B, Ceuterick C, Martin JJ, Broeckhoven CV. Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. Hum Mutat. 22:2003;175-176
24. Suomalainen A, Majander A, Wallin M, et al. Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. Neurology. 48:1997;1244-1253
25. Van Goethem G, Martin JJ, Dermaut B, et al. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord. 13:2003;133-142
26. Van Goethem G, Schwartz M, Lofgren A, Dermaut B, Van Broeckhoven C, Vissing J. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Eur J Hum Genet. 11:2003;547-549
27. Filosto M, Mancuso M, Nishigaki Y, et al. Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. Arch Neurol. 60:2003;1279-1284
28. Orth M, Schapira AH. Mitochondrial involvement in Parkinson's disease. Neurochem Int. 40:2002;533-541
29. Beal MF. Energetics in the pathogenesis of neurodegenerative diseases. Trends Neurosci. 23:2000;298-304
30. Speciale SG. MPTP: insights into parkinsonian neurodegeneration. Neurotoxicol Teratol. 24:2002;607-620
31. Betarbet R, Sherer TB, MacKenzie G, Garcia-Osuna M, Panov AV, Greenamyre JT. Chronic systemic pesticide exposure reproduces features of Parkinson's disease. Nat Neurosci. 3:2000;1301-1306
32. Gu G, Reyes PE, Golden GT, et al. Mitochondrial DNA deletions/ rearrangements in parkinson disease and related neurodegenerative disorders. J Neuropathol Exp Neurol. 61:2002;634-639
33. Zhang J, Montine TJ, Smith MA, et al. The mitochondrial common deletion in Parkinson's disease and related movement disorders. Parkinsonism Relat Disord. 8:2002;165-170
34. Bose H, Lingappa VR, Miller WL. Rapid regulation of steroidogenesis by mitochondrial protein import. Nature. 417:2002;87-91
35. Kaukonen J, Zeviani M, Comi GP, Piscaglia MG, Peltonen L, Suomalainen A. A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. Am J Hum Genet. 65:1999;256-261
36. Lewis S, Hutchison W, Thyagarajan D, Dahl HH. Clinical and molecular features of adPEO due to mutations in the Twinkle gene. J Neurol Sci. 201:2002;39-44
37. Ponamarev MV, Longley MJ, Nguyen D, Kunkel TA, Copeland WC. Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis. J Biol Chem. 277:2002;15225-15228
38. Dekker MC, Bonifati V, van Duijn CM. Parkinson's disease: piecing together a genetic jigsaw. Brain. 126:2003;1722-1733
39. Klein JA, Longo-Guess CM, Rossmann MP, et al. The harlequin mouse mutation downregulates apoptosis-inducing factor. Nature. 419:2002;367-374
40. Shults CW, Oakes D, Kieburtz K, et al. Effects of coenzyme Q10 in early Parkinson disease: evidence of slowing of the functional decline. Arch Neurol. 59:2002;1541-1550